Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16
J. Clin. Invest. P. Jaya Kausalya, et al. 116:878 doi:10.1172/JCI26323 [
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Figure 1Predicted topology of Cldn16 and location of the different mutations linked to FHHNC reported. Shown is the amino acid sequence in 1-letter code, with mutated residues in yellow and arrows indicating the change introduced by the mutation. The effect of the corresponding mutation on the predominant steady-state distribution of Cldn16 is highlighted in different colors: green, cell surface; red, ER; dark blue, Golgi complex; light blue, lysosomes. X, stop codon, fs, frame shift. The peptide (T52-S66) used to generate the anti-loop antibody is shaded in gray.
